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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645418714
Gene: TERT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
410682
ClinVar RCV Id:
RCV002526432
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_937983.2:p.Thr692Ile
CA16611698
NM_198253.3:c.2075C>T